(Q58443418)

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Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome

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scholarly article

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Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome (English)

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Melnick-Needles syndrome

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otopalatodigital syndrome

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frontometaphyseal dysplasia

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Melnick–Needles syndrome

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Stephen Robertson

1

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16926860%20AND%20SRC:MED&resulttype=core&format=json

15 May 2020

author name string

Stephen P Robertson

1

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publication date

23 August 2006

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European Journal of Human Genetics

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Europe PubMed Central

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15 May 2020

15

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Europe PubMed Central

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15 May 2020

1

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Europe PubMed Central

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15 May 2020

3-9

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Europe PubMed Central

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15 May 2020

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201654

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Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

The oto-palato-digital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

The oto-palato-digital (OPD) syndrome in females

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

The oto-palato-digital syndrome, proposed type II.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

AN UNDIAGNOSED BONE DYSPLASIA

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

Filamins as integrators of cell mechanics and signalling

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

The oto-palato-digital syndrome: variable clinical expressions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

Filamin A: phenotypic diversity

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

21 January 2018

Melnick-Needles syndrome in males

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

7 January 2021

based on heuristic

inferred from DOI database lookup

The oto-palato-digital (OPD) syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

7 January 2021

based on heuristic

inferred from DOI database lookup

Otopalatodigital syndrome type II associated with omphalocele: report of three cases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

7 January 2021

based on heuristic

inferred from DOI database lookup

A familial syndrome of cranial, facial, oral and limb anomalies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

7 January 2021

based on heuristic

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Abnormal facies, cleft palate, and generalized dysostosis: A lethal X-linked syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

7 January 2021

based on heuristic

inferred from DOI database lookup

Frontometaphyseal dysplasia. A new syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

7 January 2021

based on heuristic

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Frontometaphyseal dysplasia with congenital urinary tract malformations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

7 January 2021

based on heuristic

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Fronto-metaphyseal dysplasia. Further delineation of the clinical syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

7 January 2021

based on heuristic

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A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

7 January 2021

based on heuristic

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Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

7 January 2021

based on heuristic

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Urological manifestations of the Melnick-Needles syndrome: a case report and review of the literature

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

7 January 2021

based on heuristic

inferred from DOI database lookup

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

7 January 2021

based on heuristic

inferred from DOI database lookup

Melnick-Needles syndrome: osteodysplasty with kyphoscoliosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201654

7 January 2021

based on heuristic

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Identifiers

10.1038/SJ.EJHG.5201654

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16926860%20AND%20SRC:MED&resulttype=core&format=json

15 May 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16926860%20AND%20SRC:MED&resulttype=core&format=json

15 May 2020

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